Canonical Allele Identifier: CA10574739

Gene: KDM5D

Linked Data

• dbSNP Id: rs770490752
• ExAC: Y:21869325 C / T
• gnomAD v2: Y-21869325-C-T
• MyVariant Identifiers: chrY:g.21869325C>T (hg19) ; chrY:g.19707439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707439C>T , CM000686.2:g.19707439C>T	GRCh38
NC_000024.9:g.21869325C>T , CM000686.1:g.21869325C>T	GRCh37
NC_000024.8:g.20328713C>T	NCBI36
NG_032920.1:g.42501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3707G>A MANE Select	ENSP00000322408.4:p.Arg1236His
ENST00000317961.8:c.3707G>A	ENSP00000322408.4:p.Arg1236His
ENST00000382806.6:c.3536G>A	ENSP00000372256.2:p.Arg1179His
ENST00000415360.1:c.623G>A	ENSP00000389433.1:p.Arg208His
ENST00000440077.5:c.3584G>A	ENSP00000398543.1:p.Arg1195His
ENST00000469599.6:n.2305G>A
ENST00000492117.1:n.3599G>A
ENST00000541639.5:c.3800G>A	ENSP00000444293.1:p.Arg1267His
NM_001146705.1:c.3800G>A	NP_001140177.1:p.Arg1267His
NM_001146706.1:c.3536G>A	NP_001140178.1:p.Arg1179His
NM_004653.4:c.3707G>A	NP_004644.2:p.Arg1236His
XM_005262560.1:c.3572G>A	XP_005262617.1:p.Arg1191His
XM_005262561.1:c.3476G>A	XP_005262618.1:p.Arg1159His
XM_011531468.1:c.3629G>A	XP_011529770.1:p.Arg1210His
XR_244571.2:n.3995G>A
XR_430568.2:n.4329G>A
XM_005262560.3:c.3572G>A	XP_005262617.1:p.Arg1191His
XM_005262561.3:c.3476G>A	XP_005262618.1:p.Arg1159His
XM_011531468.3:c.3629G>A	XP_011529770.1:p.Arg1210His
XM_024452495.1:c.1697G>A	XP_024308263.1:p.Arg566His
XM_024452496.1:c.1463G>A	XP_024308264.1:p.Arg488His
XR_001756009.2:n.4445G>A
XR_001756010.2:n.4445G>A
XR_001756011.2:n.4310G>A
XR_001756012.2:n.4458G>A
XR_001756013.2:n.3776G>A
XR_002958832.1:n.3877G>A
XR_002958834.1:n.4101G>A
XR_002958835.1:n.3984G>A
XR_002958836.1:n.4667G>A
XR_002958837.1:n.4474G>A
XR_244571.4:n.3994G>A
XR_430568.4:n.4328G>A
NM_001146706.2:c.3536G>A	NP_001140178.1:p.Arg1179His
NM_004653.5:c.3707G>A MANE Select	NP_004644.2:p.Arg1236His
NM_001146705.2:c.3800G>A	NP_001140177.1:p.Arg1267His